Cell-free DNA-based prenatal screening via rolling circle amplification: Identifying and resolving analytic issues.

ABSTRACT:

Objective

A rolling circle amplification (RCA) based commercial methodology using cell-free (cf)DNA to screen for common trisomies became available in 2018. Relevant publications documented high detection but with a higher than expected 1% false positive rate. Preliminary evidence suggested assay variability was an issue. A multi-center collaboration was created to explore this further and examine whether subsequent manufacturer changes were effective.

Methods

Three academic (four devices) and two commercial (two devices) laboratories provided run date, chromosome 21, 18, and 13 run-specific standard deviations, number of samples run, and reagent lot identifications. Temporal trends and between-site/device consistency were explored. Proportions of run standard deviations exc

SUBMITTER: Palomaki GE 

PROVIDER: S-EPMC10629251 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature